Search details
1.
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.
J Hum Genet
; 69(1): 47-52, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37950019
2.
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7.
J Hum Genet
; 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38605133
3.
Altered brain metabolite concentration and delayed neurodevelopment in preterm neonates.
Pediatr Res
; 91(1): 197-203, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33674742
4.
Comparison of Predictive Values of Magnetic Resonance Biomarkers Based on Scan Timing in Neonatal Encephalopathy Following Therapeutic Hypothermia.
J Pediatr
; 239: 101-109.e4, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34391766
5.
[Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes(MELAS)].
No Shinkei Geka
; 49(2): 349-355, 2021 Mar.
Article
in Japanese
| MEDLINE | ID: mdl-33762456
6.
Hypofractionated radiotherapy in children with diffuse intrinsic pontine glioma.
Pediatr Int
; 62(1): 47-51, 2020 Jan.
Article
in English
| MEDLINE | ID: mdl-31785177
7.
Changes in Brain Metabolite Concentrations after Neonatal Hypoxic-ischemic Encephalopathy.
Radiology
; 288(3): 840-848, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29893645
8.
In vivo estimation of gamma-aminobutyric acid levels in the neonatal brain.
NMR Biomed
; 30(1)2017 01.
Article
in English
| MEDLINE | ID: mdl-27859844
9.
Visualization of the airway in infants with MRI using pointwise encoding time reduction with radial acquisition (PETRA).
J Magn Reson Imaging
; 45(3): 839-844, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27490158
10.
Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay.
Pediatr Int
; 64(1): e14734, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34714572
11.
WDR45 mutations in three male patients with West syndrome.
J Hum Genet
; 61(7): 653-61, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27030146
12.
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Am J Med Genet A
; 170A(2): 322-328, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26481852
13.
Influence of ADORA2A gene polymorphism on leukoencephalopathy risk in MTX-treated pediatric patients affected by hematological malignancies.
Pediatr Blood Cancer
; 63(11): 1983-9, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27399166
14.
Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series.
Neuropediatrics
; 47(2): 115-8, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26808679
15.
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
J Hum Genet
; 60(2): 97-101, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25471517
16.
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
Am J Med Genet A
; 167A(10): 2430-4, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26059403
17.
Indocyanine green lymphography for congenital lymphatic dysplasia with tuberous sclerosis complex: A case report.
Pediatr Int
; 62(2): 234-236, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31970872
18.
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
J Hum Genet
; 59(8): 471-4, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24965255
19.
Early magnetic resonance detection of cortical necrosis and acute network injury associated with neonatal and infantile cerebral infarction.
Pediatr Radiol
; 44(5): 597-604, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24419493
20.
Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis.
Pediatr Int
; 56(1): 112-5, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24548198